NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Finnish congenital nephrotic syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477 2014
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Interaction with podocin facilitates nephrin signaling. 11562357 2001
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 11317351 2001
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 11317351 2001